IllnessCalcinosis, tumorous; differential diagnosis

NGS +

Hyperphosphatemic familial tumorous calcinosis (HFTC) is characterized by deposits in childhood or (early) adulthood in and just under the skin around the joints, often on the hips, shoulders and elbows. Deposits may also occur in the soft tissues of the feet, legs, hands, and less commonly in blood vessels or the brain. HFTC develops quite gradually, and the deposits vary in size and can affect joint function. Other symptoms include ocular abnormalities (corneal calcification or angioid streaks in Bruch's membrane), inflammation of the diaphyses or hyperostosis and dental abnormalities. Low-symptom microlithiasis may develop in the testes. A similar condition like HTFC, hyperphosphatemia-hyperostosis syndrome, also results in elevated blood phosphate levels, excessive bone growth and bone lesions; it is now thought to be a mild variant of HFTC. Mutations in the FGF23, GALNT3, KL or SAMD9 genes cause HFTC; the disease is inherited in an autosomal recessive manner. Although the DNA diagnostic yield reaches >90% in typical cases, a negative molecular genetic result does not exclude clinical diagnosis.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK476672/

• Alias: Familial Tumoral Calcinosis
• Alias: Hyperostosis-hyperphosphatemia syndrome
• Alias: Hyperphosphatemia hyperostosis syndrome
• Alias: Hyperphosphatemia tumoral calcinosis
• Alias: Hyperphosphatemic familial tumoral calcinosis
• Alias: Morbus Teutschländer (GALNT3)
• Alias: Primary Hyperphosphatemic Tumoral Calcinosis
• Allelic: ACTH-independent macronodular adrenal hyperplasia (GNAS)
• Allelic: Bone mineral density variation QTL, osteoporosis (COL1A1)
• Allelic: Combined osteogenesis imperfecta + Ehlers-Danlos syndrome 1 (COL1A1)
• Allelic: Diabetes mellitus, non-insulin-dependent, susceptibility to (ENPP1)
• Allelic: Ehlers-Danlos syndrome, arthrochalasia type, 1 (COL1A1)
• Allelic: Hypophosphatemic rickets, AD (FGF23)
• Allelic: Hypophosphatemic rickets, Ar, 2 (ENPP1)
• Allelic: McCune-Albright syndrome, somatic, mosaic (GNAS)
• Allelic: Obesity, susceptibility to (ENPP1)
• Allelic: Osteogenesis imperfecta, type I-IV (COL1A1)
• Allelic: Porphyria, hepatoerythropoietic (UROD)
• Allelic: Pseudohypoparathyroidism Ia, Ib, Ic (GNAS)
• Allelic: Pseudopseudohypoparathyroidism (GNAS)
• Allelic: Pseudoxanthoma elasticum (ABCC6)
• Allelic: Pseudoxanthoma elasticum, forme fruste (ABCC6)
• Arterial calcification, generalized, of infancy, 1 (ENPP1)
• Arterial calcification, generalized, of infancy, 2 (ABCC6)
• Caffey disease (COL1A1)
• Calcification of joints + arteries (NT5E)
• Cole disease (ENPP1)
• Fibrodysplasia ossificans progressiva (ACVR1)
• MIRAGE syndrome (SAMD9)
• Osseous heteroplasia, progressive (GNAS)
• Porphyria cutanea tarda (UROD)
• Tumoral calcinosis, familial, normophosphatemic (SAMD9)
• Tumoral calcinosis, hyperphosphatemic, familial, 1 (GALNT3)
• Tumoral calcinosis, hyperphosphatemic, familial, 2 (FGF23)
• Tumoral calcinosis, hyperphosphatemic, familial, 3 (KL)